Incidental Mutation 'R3916:Atp1b2'
ID 309763
Institutional Source Beutler Lab
Gene Symbol Atp1b2
Ensembl Gene ENSMUSG00000041329
Gene Name ATPase, Na+/K+ transporting, beta 2 polypeptide
Synonyms Amog, Atpb-2
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R3916 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 69490562-69496768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69493901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 93 (V93A)
Ref Sequence ENSEMBL: ENSMUSP00000047353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047889] [ENSMUST00000138694]
AlphaFold P14231
Predicted Effect probably damaging
Transcript: ENSMUST00000047889
AA Change: V93A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047353
Gene: ENSMUSG00000041329
AA Change: V93A

Pfam:Na_K-ATPase 7 283 1.1e-113 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130394
Predicted Effect probably benign
Transcript: ENSMUST00000138694
SMART Domains Protein: ENSMUSP00000116290
Gene: ENSMUSG00000041329

Pfam:Na_K-ATPase 1 130 1.3e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144425
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153198
Meta Mutation Damage Score 0.5147 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygotes for a null mutation exhibit lack of motor coordination, tremors, limb paralysis, enlarged ventricles, photoreceptor degeneration, vacuoles adjoining capillaries of brain stem, thalamus, striatum, and spinal cord, and death at 17-18 days of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T G 2: 68,562,329 (GRCm39) F319V possibly damaging Het
Acad12 A G 5: 121,737,277 (GRCm39) V498A probably damaging Het
Adam19 A G 11: 45,951,762 (GRCm39) E37G probably benign Het
Anks3 A G 16: 4,765,143 (GRCm39) Y423H probably damaging Het
Arfgef1 A T 1: 10,259,668 (GRCm39) V600D probably benign Het
Arhgef18 T C 8: 3,504,197 (GRCm39) F939L probably benign Het
Arhgef2 A G 3: 88,540,340 (GRCm39) N127S probably damaging Het
Arid1b A G 17: 5,392,928 (GRCm39) S2100G probably benign Het
Atrnl1 T C 19: 57,924,084 (GRCm39) V1283A possibly damaging Het
Bpifb5 A C 2: 154,070,101 (GRCm39) K184Q probably benign Het
Cadps C T 14: 12,457,702 (GRCm38) A1060T probably benign Het
Cant1 A G 11: 118,299,572 (GRCm39) V259A probably damaging Het
Ccdc89 A G 7: 90,076,033 (GRCm39) D81G probably damaging Het
Cntnap4 C G 8: 113,602,165 (GRCm39) P1190A probably benign Het
Colgalt2 T A 1: 152,384,362 (GRCm39) Y567* probably null Het
Cyp4f18 A T 8: 72,749,881 (GRCm39) F256Y probably benign Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dop1a G A 9: 86,403,186 (GRCm39) R1462H probably damaging Het
Dync1i2 A G 2: 71,079,716 (GRCm39) T377A probably damaging Het
F2 G A 2: 91,455,833 (GRCm39) T600M probably damaging Het
Fam91a1 C T 15: 58,302,583 (GRCm39) H308Y probably damaging Het
Fkbp2 C A 19: 6,955,925 (GRCm39) probably null Het
Gabarapl2 T A 8: 112,679,028 (GRCm39) F115L probably benign Het
Heatr3 T G 8: 88,876,999 (GRCm39) probably null Het
Ifi204 T G 1: 173,583,341 (GRCm39) K292N possibly damaging Het
Itpkc A T 7: 26,927,728 (GRCm39) I62N probably benign Het
Kcnab1 G A 3: 65,211,585 (GRCm39) probably null Het
Krt88 G A 15: 101,350,809 (GRCm39) probably null Het
Larp4 C T 15: 99,888,284 (GRCm39) T107I probably benign Het
Lmo7 T C 14: 102,166,778 (GRCm39) probably benign Het
Lrrc37a T C 11: 103,346,344 (GRCm39) Y3174C possibly damaging Het
Lyzl4 T A 9: 121,412,101 (GRCm39) D105V probably damaging Het
Mst1 A G 9: 107,961,494 (GRCm39) I575V probably benign Het
Myh7 C A 14: 55,211,503 (GRCm39) E1555D probably damaging Het
Nwd1 T A 8: 73,394,439 (GRCm39) C608* probably null Het
Obox3 C A 7: 15,361,151 (GRCm39) C38F probably benign Het
P4ha2 A G 11: 54,017,074 (GRCm39) D441G probably benign Het
Pcdhb14 A T 18: 37,581,598 (GRCm39) I235F possibly damaging Het
Rasgrf2 A G 13: 92,167,296 (GRCm39) V259A probably damaging Het
Scn1a T C 2: 66,107,957 (GRCm39) T1590A probably damaging Het
Sdk1 T A 5: 142,036,999 (GRCm39) D817E probably damaging Het
Sema3b A G 9: 107,477,657 (GRCm39) F482S probably damaging Het
Slc35a5 G C 16: 44,978,521 (GRCm39) probably benign Het
Slc6a3 A G 13: 73,710,427 (GRCm39) I346V probably benign Het
Slu7 G T 11: 43,331,511 (GRCm39) probably null Het
Spns1 A T 7: 125,970,711 (GRCm39) probably null Het
Supv3l1 T C 10: 62,285,199 (GRCm39) D89G possibly damaging Het
Taf1c G A 8: 120,327,244 (GRCm39) R412W probably damaging Het
Tctn3 T A 19: 40,596,093 (GRCm39) T305S possibly damaging Het
Tekt1 A G 11: 72,236,574 (GRCm39) I296T possibly damaging Het
Tet2 T C 3: 133,191,816 (GRCm39) K873E possibly damaging Het
Thada G A 17: 84,749,210 (GRCm39) A587V possibly damaging Het
Tmprss15 T A 16: 78,782,884 (GRCm39) N712Y probably damaging Het
Tnks A G 8: 35,320,515 (GRCm39) S719P probably damaging Het
Tnrc6a A C 7: 122,780,607 (GRCm39) Q1332H probably damaging Het
Trpv3 A G 11: 73,174,560 (GRCm39) D309G possibly damaging Het
Tti2 A G 8: 31,643,547 (GRCm39) K221E possibly damaging Het
Uba5 A T 9: 103,931,389 (GRCm39) C227S probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Unc80 T C 1: 66,716,654 (GRCm39) C2925R probably benign Het
Vmn2r83 G A 10: 79,314,744 (GRCm39) G331R probably benign Het
Xirp2 G T 2: 67,341,766 (GRCm39) V1336F probably benign Het
Zbed5 T C 5: 129,931,118 (GRCm39) Y356H possibly damaging Het
Other mutations in Atp1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02043:Atp1b2 APN 11 69,496,102 (GRCm39) missense probably benign 0.30
R0190:Atp1b2 UTSW 11 69,492,388 (GRCm39) missense probably damaging 1.00
R1445:Atp1b2 UTSW 11 69,493,309 (GRCm39) critical splice acceptor site probably null
R1553:Atp1b2 UTSW 11 69,493,678 (GRCm39) missense probably damaging 1.00
R3085:Atp1b2 UTSW 11 69,493,705 (GRCm39) missense possibly damaging 0.58
R3699:Atp1b2 UTSW 11 69,496,095 (GRCm39) missense probably benign 0.09
R3917:Atp1b2 UTSW 11 69,493,901 (GRCm39) missense probably damaging 0.99
R4201:Atp1b2 UTSW 11 69,494,295 (GRCm39) missense possibly damaging 0.65
R4627:Atp1b2 UTSW 11 69,492,160 (GRCm39) missense probably damaging 0.99
R4776:Atp1b2 UTSW 11 69,492,387 (GRCm39) missense probably damaging 1.00
R5115:Atp1b2 UTSW 11 69,494,299 (GRCm39) missense probably damaging 1.00
R5342:Atp1b2 UTSW 11 69,493,654 (GRCm39) missense probably damaging 0.99
R5457:Atp1b2 UTSW 11 69,493,558 (GRCm39) missense probably damaging 1.00
R6618:Atp1b2 UTSW 11 69,494,289 (GRCm39) missense probably damaging 0.97
R9084:Atp1b2 UTSW 11 69,492,388 (GRCm39) missense probably damaging 1.00
Z1176:Atp1b2 UTSW 11 69,492,141 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-17